{"Name":"Striate palmoplantar keratoderma","DiseaseID__c":"GARD:0015016","id":15016,"encodedName":"striate-palmoplantar-keratoderma","IsDeleted":false,"Disease_Name_Full__c":"Striate palmoplantar keratoderma","Xref_IDs__c":"764958008; C4707237; DOID:0081105; MEDGEN:1631598; MONDO:0018865; ORPHA:50942","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0018865","Disease_Description__c":"Striate palmoplantar keratoderma is an isolated, focal, hereditary palmoplantar keratoderma characterized by linear hyperkeratosis along the flexor aspect of the fingers and on palms, as well as focal hyperkeratosis of the plantar skin. Patients present with painful thickening of the skin on palms and soles, with occasional fissuring, blistering and hyperhidrosis. Rarely, hyperkeratosis on other areas may be seen (knees, dorsal aspects of the digits). Histopatologically, widened intercellular spaces between keratinocytes are observed.","GARD_Name__c":"Striate palmoplantar keratoderma","GARD_Synonym__c":"keratosis palmoplantaris striata; keratosis palmoplantaris striata et areata; keratosis palmoplantaris varians of wachters","Curated_Disease_Description_Source__c":"MONDO:0018865","Curated_Disease_Description__c":"Striate palmoplantar keratoderma is an isolated, focal, hereditary palmoplantar keratoderma characterized by linear hyperkeratosis along the flexor aspect of the fingers and on palms, as well as focal hyperkeratosis of the plantar skin. Patients present with painful thickening of the skin on palms and soles, with occasional fissuring, blistering and hyperhidrosis. Rarely, hyperkeratosis on other areas may be seen (knees, dorsal aspects of the digits). Histopatologically, widened intercellular spaces between keratinocytes are observed.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:50942","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018865","ORPHANET_ID__c":"ORPHA:50942","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Queratodermia palmoplantar estriada","Spanish_Description_Source__c":"ORPHA:50942","Spanish_Description__c":"Es una queratodermia palmoplantar aislada, focal y hereditaria, que se caracteriza por hiperqueratosis lineal a lo largo de los flexores de los dedos y en las palmas, así como hiperqueratosis focal de la piel plantar. Los afectados presentan engrosamiento doloroso de la piel en palmas y plantas, con fisuras, ampollas e hiperhidrosis ocasionales. Excepcionalmente, se puede observar hiperqueratosis en otras áreas (rodillas, parte dorsal de los dígitos). Histopatológicamente, se observan espacios intercelulares ensanchados entre queratinocitos.","Spanish_Disease_Name__c":"queratodermia palmoplantar estriada","Spanish_GARD_Synonym__c":"queratosis palmoplantar estriada; queratosis palmoplantar estriada y areata; queratosis palmoplantar varians de wachters","Category_Linearization__c":"ORPHA:89826","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Striate palmoplantar keratoderma is an isolated, focal, hereditary palmoplantar keratoderma characterized by linear hyperkeratosis along the flexor aspect of the fingers and on palms, as well as focal hyperkeratosis of the plantar skin. Patients present with painful thickening of the skin on palms and soles, with occasional fissuring, blistering and hyperhidrosis. Rarely, hyperkeratosis on other areas may be seen (knees, dorsal aspects of the digits). Histopatologically, widened intercellular spaces between keratinocytes are observed.","Curated_Disease_Description_Source__c":"MONDO:0018865","GARD_Synonym__c":"keratosis palmoplantaris striata; keratosis palmoplantaris striata et areata; keratosis palmoplantaris varians of wachters","Name":"Striate palmoplantar keratoderma","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Foundation for Ichthyosis and Related Skin Types","Website__c":"https://www.firstskinfoundation.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:50942"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:50942"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4707237","Source__c":"C4707237","Xref__c":"C4707237"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=764958008","Source__c":"C4707237; MONDO:0018865","Xref__c":"764958008"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0081105","Source__c":"MONDO:0018865","Xref__c":"DOID:0081105"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1631598","Source__c":"C4707237","Xref__c":"MEDGEN:1631598"},{"URL__c":"https://www.orpha.net/en/disease/detail/50942","Source__c":"C4707237; MONDO:0018865; ORPHA:50942","Xref__c":"ORPHA:50942"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018865","Source__c":"GARD:0015016","Xref__c":"MONDO:0018865"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"DSP","GHR_URL__c":"https://medlineplus.gov/genetics/gene/dsp","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"KRT1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/krt1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"DSG1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:50942","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001595","HPO_Synonym__c":"Abnormality of the hair; Hair abnormality","HPO_Name__c":"Abnormal hair morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50942","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal thickening of the skin of the palms of the hands and the soles of the feet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000982","HPO_Synonym__c":"Keratoderma; Palmar and plantar keratoderma; Thickening of palms and soles","HPO_Name__c":"Palmoplantar keratoderma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50942","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal structure or appearance of the nail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001597","HPO_Synonym__c":"Abnormality of the nail","HPO_Name__c":"Abnormal nail morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["keratosis palmoplantaris striata"," keratosis palmoplantaris striata et areata"," keratosis palmoplantaris varians of wachters"]}